title: Shape alterations in the striatum in chorea-acanthocytosis.
abstract: Chorea-acanthocytosis (ChAc) is an uncommon autosomal recessive disorder due to mutations of the VPS13A gene, which encodes for the membrane protein chorein. ChAc presents with progressive limb and orobuccal chorea, but there is often a marked dysexecutive syndrome. ChAc may first present with neuropsychiatric disturbance such as obsessive-compulsive disorder (OCD), suggesting a particular role for disruption to striatal structures involved in non-motor frontostriatal loops, such as the head of the caudate nucleus. Two previous studies have suggested a marked reduction in volume in the caudate nucleus and putamen, but did not examine morphometric change. We investigated morphometric change in 13 patients with genetically or biochemically confirmed ChAc and 26 age- and gender-matched controls. Subjects underwent magnetic resonance imaging and manual segmentation of the caudate nucleus and putamen, and shape analysis using a non-parametric spherical harmonic technique. Both structures showed significant and marked reductions in volume compared with controls, with reduction greatest in the caudate nucleus. Both structures showed significant shape differences, particularly in the head of the caudate nucleus. No significant correlation was shown between duration of illness and striatal volume or shape, suggesting that much structural change may have already taken place at the time of symptom onset. Our results suggest that striatal neuron loss may occur early in the disease process, and follows a dorsal-ventral gradient that may correlate with early neuropsychiatric and cognitive presentations of the disease.
authors.affiliation: Neuropsychiatry Unit, Royal Melbourne Hospital 3050, Australia. mark.walterfang@mh.org.au
authors.forename: Mark
authors.initials: M
authors.lastname: Walterfang
authors.forename: Jeffrey Chee Leong
authors.initials: JC
authors.lastname: Looi
authors.forename: Martin
authors.initials: M
authors.lastname: Styner
authors.forename: Ruth H
authors.initials: RH
authors.lastname: Walker
authors.forename: Adrian
authors.initials: A
authors.lastname: Danek
authors.forename: Marc
authors.initials: M
authors.lastname: Niethammer
authors.forename: Andrew
authors.initials: A
authors.lastname: Evans
authors.forename: Katya
authors.initials: K
authors.lastname: Kotschet
authors.forename: Guilherme R
authors.initials: GR
authors.lastname: Rodrigues
authors.forename: Andrew
authors.initials: A
authors.lastname: Hughes
authors.forename: Dennis
authors.initials: D
authors.lastname: Velakoulis
mesh_terms: D000328:Adult; D000704:Analysis of Variance; D003342:Corpus Striatum / Q000473:pathology* / Q000503:physiopathology*; D005260:Female; D007839:Functional Laterality; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D054546:Neuroacanthocytosis / Q000473:pathology*; D012044:Regression Analysis